Congenital pulmonary airway malformation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CPAM CCAM Congenital cystic adenomatous malformation of the lung Congenital cystic disease of the lung |
| Number of Symptoms | 6 |
| OrphanetNr: | 2444 |
| OMIM Id: |
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| ICD-10: |
Q33.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic respiratory or mediastinal malformation
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease Respiratory malformation -Rare respiratory disease |
Symptom Information:
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(HPO:0001561) | Polyhydramnios | Occasional [Orphanet] | 191 / 7739 | |||
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(HPO:0001197) | Abnormality of prenatal development or birth | Very frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0001622) | Premature birth | Occasional [Orphanet] | 100 / 7739 | |||
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(HPO:0012252) | Abnormal respiratory system morphology | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
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(HPO:0002103) | Abnormality of the pleura | Occasional [Orphanet] | 58 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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